Tıp Fakültesi / Faculty of Medicine

Permanent URI for this collectionhttps://hdl.handle.net/11727/1403

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Author: search.filters.author.Sahin, Nursel Muratoglusearch.filters.applied.f.rights: search.filters.rights.info:eu-repo/semantics/closedAccess

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    Congenital Hyperinsulinism in A Newborn with A Novel Homozygous Mutation (P.Q392H) in The ABCC8 Gene
    (2014) Ince, Deniz Anuk; Sahin, Nursel Muratoglu; Ecevit, Ayse; Kurt, Abdullah; Kinik, Sibel Tulgar; Flanagan, Sarah E.; Hussain, Khalid; Tarcan, Aylin; https://orcid.org/0000-0002-4369-2110; https://orcid.org/0000-0002-8215-0146; https://orcid.org/0000-0002-2232-8117; https://orcid.org/0000-0002-4430-444X; https://orcid.org/0000-0002-8670-6340; 24945427; I-6746-2016; AAA-1266-2019; AAJ-4616-2021; HIU-0129-2022; AFK-0591-2022
    Congenital hyperinsulinism is the most frequent cause of persistent hypoglycemia in infancy. We present the case of a preterm, large-for-gestation-age infant with congenital hyperinsulinism who was found to have a novel p.Q392H homozygous mutation in the ABCC8 gene. The patient had severe brain damage, despite early diagnosis and appropriate management. The new mutations may provide an understanding of the prognosis and treatment of the disease. In addition, the data will help the family make informed decisions about future pregnancies.
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    AMH Levels at Central Precocious Puberty and Premature Thelarche: Is It A Parameter?
    (2015) Sahin, Nursel Muratoglu; Kinik, Sibel Tulgar; Tekindal, Mustafa Agah; Bayraktar, Nilufer; 0000-0002-7886-3688; 0000-0002-4060-7048; 0000-0002-8215-0146; 26226120; Y-8758-2018; U-9270-2018; AAA-1266-2019
    Background: The possible difference of antimllrin hormone (AMH) levels at central precocious puberty (CPP) and premature thelarche (PT) has not been properly evaluated. Objective/hypothesis: By evaluating AMH levels in girls with diagnosed CPP and PT, we aim to show the change of AMH levels at the pubertal onset. Subjects: Sixty-five girls who have breast development before the age of 8 years and 25 healthy girls were enrolled in the study. Methods: The subjects were divided into two groups as CPP and PT, according to results of GnRH test. AMH levels were determined in the two groups. Results: The mean AMH levels of the CPP group were significantly lower than those in the PT group (13.57 +/- 9.85 pmol/L and 58.42 +/- 12.78 pmol/L, respectively, p=0.022). Conclusion: These results suggest that the AMH levels decrease in the duration of the hypothalamus-pituitaryovarian axis activation. We thought that AMH might/may be a marker for distinguishing between CPP and PT.